Search Results - "Deschauer, M"

Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis by Prause, J, Goswami, A, Katona, I, Roos, A, Schnizler, M, Bushuven, E, Dreier, A, Buchkremer, S, Johann, S, Beyer, C, Deschauer, M, Troost, D, Weis, J

“…Intracellular accumulations of mutant, misfolded proteins are major pathological hallmarks of amyotrophic lateral sclerosis (ALS) and related disorders…”
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Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial by Strothotte, S., Strigl-Pill, N., Grunert, B., Kornblum, C., Eger, K., Wessig, C., Deschauer, M., Breunig, F., Glocker, F. X., Vielhaber, S., Brejova, A., Hilz, M., Reiners, K., Müller-Felber, W., Mengel, E., Spranger, M., Schoser, Benedikt

“…Late-onset glycogen storage disease type 2 (GSD2)/Pompe disease is a progressive multi-system disease evoked by a deficiency of lysosomal acid α-glucosidase…”
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C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis by Deschauer, M., Gaul, C., Behrmann, C., Prokisch, H., Zierz, S., Haack, T. B.

“…Mutations in C19orf12 have been recently identified as the molecular genetic cause of a subtype of neurodegeneration with brain iron accumulation (NBIA). Given…”
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Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle by Campbell, Georgia, Krishnan, Kim J, Deschauer, Marcus, Taylor, Robert W, Turnbull, Doug M

“…Large-scale mitochondrial DNA (mtDNA) deletions are an important cause of mitochondrial disease, while somatic mtDNA deletions cause focal respiratory chain…”
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An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease by Kulessa, M., Weyer‐Menkhoff, I., Viergutz, L., Kornblum, C., Claeys, K. G., Schneider, I., Plöckinger, U., Young, P., Boentert, M., Vielhaber, S., Mawrin, C., Bergmann, M., Weis, J., Ziagaki, A., Stenzel, W., Deschauer, M., Nolte, D., Hahn, A., Schoser, B., Schänzer, A.

“…Aims Pompe disease is caused by pathogenic mutations in the alpha 1,4‐glucosidase (GAA) gene and in patients with late onset Pome disease (LOPD),…”
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Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration by Bublitz, S.K., Alhaddad, B., Synofzik, M., Kuhl, V., Lindner, A., Freiberg, C., Schmidt, H., Strom, T.M., Haack, T.B., Deschauer, M.

“…Identification of this additional patient from a distant part of the originally described pedigree (Synofzik et al. 2014) confirms pathogenicity of DNAJC3…”
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Magnetic Resonance Imaging Characteristics of Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations by Hedderich, D. M., Lummel, N., Deschauer, M., Kümpfel, T., Schuh, E., Patzig, M., Zimmer, C., Huber, T.

“…Background Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare hereditary disease presenting with distinct…”
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Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting by Winchester, B., Bali, D., Bodamer, O.A., Caillaud, C., Christensen, E., Cooper, A., Cupler, E., Deschauer, M., Fumić, K., Jackson, M., Kishnani, P., Lacerda, L., Ledvinová, J., Lugowska, A., Lukacs, Z., Maire, I., Mandel, H., Mengel, E., Müller-Felber, W., Piraud, M., Reuser, A., Rupar, T., Sinigerska, I., Szlago, M., Verheijen, F., van Diggelen, O.P., Wuyts, B., Zakharova, E., Keutzer, J.

“…Pompe disease is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA). It presents at…”
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Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes by Müller, Juliane S., Herczegfalvi, Agnes, Vilchez, Juan J., Colomer, Jaume, Bachinski, Linda L., Mihaylova, Violeta, Santos, Manuela, Schara, Ulrike, Deschauer, Marcus, Shevell, Michael, Poulin, Chantal, Dias, Ana, Soudo, Ana, Hietala, Marja, Äärimaa, Tuula, Krahe, Ralf, Karcagi, Veronika, Huebner, Angela, Beeson, David, Abicht, Angela, Lochmüller, Hanns

“…Dok ('downstream-of-kinase') family of cytoplasmic proteins play a role in signalling downstream of receptor and non-receptor phosphotyrosine kinases…”
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Melas associated with mutations in the POLG1 gene by DESCHAUER, M, TENNANT, S, ROKICKA, A, HE, L, KRAYA, T, TURNBULL, D. M, ZIERZ, S, TAYLOR, R. W

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Pain in adult patients with Pompe disease: a cross-sectional survey by Güngör, D, Schober, A K, Kruijshaar, M E, Plug, I, Karabul, N, Deschauer, M, van Doorn, P A, van der Ploeg, A T, Schoser, B, Hanisch, F

“…Pompe disease is a rare hereditary metabolic myopathy caused by a deficiency of acid-α-glucosidase. We investigated the presence and severity of pain and its…”
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P39. Assigning pathogenicity to three novel mt-tRNA mutations associated with different mitochondrial disease presentations by Lehmann, D, Schubert, K, Joshi, P.R, Baty, K, Blakely, E.L, Hardy, S, Bamberg, C, Zierz, S, Taylor, R.W, Deschauer, M

“…Mitochondrial transfer RNA (mt-tRNA) mutations are the commonest mitochondrial (mtDNA) mutations associated with human disease. Assigning pathogenicity to…”
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Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism by HUDSON, G, DESCHAUER, M, BUSSE, K, ZIERZ, S, CHINNERY, P. F

“…The authors describe siblings with progressive external ophthalmoplegia (PEO) due to a novel heterozygous A to G transition at nucleotide 955 of C10Orf2…”
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Metabolic and mitochondrial myopathies by Vorgerd, M, Deschauer, M

“…Metabolic myopathies include a broad group of diseases involving inherited enzyme defects in the various metabolic pathways and skeletal musculature. They show…”
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Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations by Schara, U, Barisic, N, Deschauer, M, Lindberg, C, Straub, V, Strigl-Pill, N, Wendt, M, Abicht, A, Müller, J.S, Lochmüller, H

“…Abstract In congenital myasthenic syndrome with DOK7 mutations ephedrine was reported to be beneficial in single patients. We carried out a small, open and…”
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The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case by Funke, AD, Esser, M, Krüttgen, A, Weis, J, Mitne-Neto, M, Lazar, M, Nishimura, AL, Sperfeld, AD, Trillenberg, P, Senderek, J, Krasnianski, M, Zatz, M, Zierz, S, Deschauer, M

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Perspectives for surface structure analysis with low energy electron diffraction by Moritz, W., Landskron, J., Deschauer, M.

“…The two main methods for surface structure determination, X-ray diffraction and low energy electron diffraction, are briefly compared and two areas are…”
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Enzyme replacement therapy and antibodies in late-onset Pompe disease by Schneider, I, Deschauer, M, Hanisch, F

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Phenotypic spectrum of patients with MERRF and mutations in the MTTK gene by Claeys, K, Altmann, J, Büchner, B, Nadaj-Pakleza, A, Lehmann, D, Schöls, L, Deschauer, M, Jackson, S, Schäfer, J, Lautenschläger, R, Kuhn, A, Schulz, J, Weis, J, Kornblum, C, Klopstock, T

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EFALIZUMAB-INDUCED ISOLATED CEREBRAL LUPUS-LIKE SYNDROME by WENDT, M, WOHLRAB, J, ZIERZ, S, DESCHAUER, M

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